This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
|Partial agenesis of the
|Severe global developmental delay||0011344|
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
Split ribs[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Abnormally small eyeball
Decreased rib number[ more ]
|Prominence of the premaxilla||
Anterior position of the premaxilla
Anterior position of the primary palate bone
Prominence of the primary palate bone[ more ]
Prominent ears[ more ]
|Sparse lateral eyebrow||0005338|
|5%-29% of people have these symptoms|
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
Pigmentation anomaly[ more ]
|Cleft upper lip||
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Feeding difficulties in infancy||0008872|
Acid reflux disease
Heartburn[ more ]
|Optic nerve coloboma||0000588|
Flat head syndrome
Flattening of skull
Rhomboid shaped skull[ more ]
Early onset of puberty
Early puberty[ more ]
Disproportionately small hands
|Percent of people who have these symptoms is not available through HPO|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Cavum septum pellucidum||0002389|
|Choroid plexus cyst||0002190|
|Dilated third ventricle||0007082|
|Dilation of lateral ventricles||0006956|
Asymmetry of face
Unsymmetrical face[ more ]
Decreased muscle tone
Low muscle tone[ more ]
|Intellectual disability, profound||0002187|
|Postnatal growth retardation||
Growth delay as children
|Proximal placement of thumb||0009623|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.